Hematopoietic neoplasms of bone

2022-03-04   Judith VMG Bovée , Paola Dal Cin 

1.Leiden University Medical Center, Leiden, The Netherlands
2.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)



The clinicopathologic feature, genetic profile and prognosis are like to those associates with hematopoietic neoplasms occurring in other sites, which are detailed in the WHO 2017 Classification of Tumours of Haematopoietic and Lymphoid Tissue.

Hematopoietic neoplasms of bone neoplasms
Solitary plasmacytoma of boneGenetic aberrations similar to plasma cell myeloma. See WHO2017 Classification of Classification of Tumour of Haematopietic and Lymphoid Tissues
Primary non-Hodgkin lymphoma of bone80% of the cases are diffuse large cell lympoma. See WHO2017 Classification of Tumour of Haematopietic and Lymphoid Tissues
Langerhans cell histiocytosisActivating mutation of the MAPK pathway (85%) mainly BRAF V600E (p.Val60oGlu) and MAP2K1 1
Erdheim-Chester diseaseActivating mutation of the MAPK pathway, mainly BRAF V600E (~50%) 2 or ARAF,NRAS, KRAS or MAP2K1 3
Rosai-Dorfman diseaseMutually exclusive missense mutations in NRAS, KRAS, MAP2K1, ARAF and BRAF (~49%) in sporadic form, and germline mutation in SLC29A3 and FAS 4


Reference NumberPubmed IDLast YearTitleAuthors
1301573972018Langerhans-Cell Histiocytosis.Allen CE et al
2228795392012High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.Haroche J et al
4297204852018Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease.Abla O et al

External Links


Judith VMG Bovée ; Paola Dal Cin

Hematopoietic neoplasms of bone

Atlas Genet Cytogenet Oncol Haematol. 2022-03-04

Online version: http://atlasgeneticsoncology.org/solid-tumor/208931/hematopoietic-neoplasms-of-bone